Autosomal dominant PKD is usually diagnosed by kidney imaging studies. The most common form of diagnostic kidney imaging is ultrasound, but more precise studies, such as
computerized tomography (CT) scans or magnetic resonance imaging (MRI) are also widely used. In autosomal dominant PKD, the onset of kidney damage and how quickly the disease progresses can vary. Kidney imaging findings can also vary considerably, depending on a patient's age. Younger patients usually have both fewer and smaller cysts. Doctors have therefore developed specific criteria for diagnosing the disease with kidney imaging findings, depending on patient age. For example, the presence of at least two cysts in each kidney by age 30 in a patient with a family history of the disease can confirm the diagnosis of autosomal dominant PKD. If there is any question about the diagnosis, a family history of autosomal dominant PKD and cysts found in other organs make the diagnosis more likely.
In most cases of autosomal dominant PKD, patients have no symptoms and their physical condition appears normal for many years, so the disease can go unnoticed. Physical checkups and blood and urine tests may not lead to early diagnosis. Because of the slow, undetected progression of cyst growth, some people live for many years without knowing they have autosomal dominant PKD.
Once cysts have grown to about one-half inch, however, diagnosis is possible with imaging technology. Ultrasound, which passes sound waves through the body to create a picture of the kidneys, is used most often. Ultrasound imaging does not use any injected dyes or radiation and is safe for all patients, including pregnant women. It can also detect cysts in the kidneys of a fetus, but large cyst growth this early in life is uncommon in autosomal dominant PKD.
More powerful and expensive imaging procedures such as CT scans and MRI also can detect cysts. Recently, MRI has been used to measure kidney and cyst volume and monitor kidney and cyst growth, which may serve as a way to track progression of the disease.
Diagnosis can also be made with a genetic test that detects mutations in the autosomal dominant PKD genes, called
PKD1 and PKD2. Although this test can detect the presence of the autosomal dominant PKD mutations before large cysts develop, its usefulness is limited by two factors: detection of a disease gene cannot predict the onset of symptoms or ultimate severity of the disease, and if a disease gene is detected, no specific prevention or cure for the disease exists. However, a young person who knows of a PKD gene mutation may be able to forestall the loss of kidney function through diet and blood pressure control. The genetic test may also be used to determine whether a young member of a PKD family can safely donate a kidney to a family member with the disease. Individuals with a family history of PKD who are of childbearing age might also want to know whether they have the potential of passing a PKD gene to a child. Anyone considering genetic testing should receive counseling to understand all the implications of the test.
Urinary tract infection (UTI) is an infection of the kidney, ureter, bladder, and/or urethra. Not
everyone with a UTI has symptoms. Common symptoms include a frequent urge to
urinate and a painful, burning when urinating.
Kidney failure can occur from an acute event or a chronic condition or disease. Prerenal kidney failure is caused by blood loss, dehydration, medication. Some of the renal causes of kidney failure are from sepsis, medications, rhabdomyolysis, multiple myeloma, and acute glomerulonephritis. Post renal causes of kidney failure include bladder obstruction, prostate problems, tumors, or kidney stones. Treatment options included diet, medications, or dialysis.
High blood pressure, also known as hypertension, is a repeatedly
elevated blood pressure exceeding 140 over 90 mmHg -- a systolic pressure above
140 with a diastolic pressure above 90. There are two causes of high blood pressure, primary and secondary. Primary high blood pressure is much more common that secondary and its basic causes or underlying defects are not always known. It is known that a diet high in salt increases the risk for high blood pressure, as well as high cholesterol. Genetic factors are also a primary cause. Secondary high blood pressure is generally caused by another condition such as renal hypertension, tumors, and other conditions. Treatment for high blood pressure is generally lifestyle changes and if necessary, diet.
Headaches can be divided into two categories: primary headaches and secondary headaches. Migraine headaches, tension headaches, and cluster headaches are considered primary headaches. Secondary headaches are caused by disease. Headache symptoms vary with the headache type. Over-the-counter pain relievers provide short-term relief for most headaches.
Kidney infection (pyelonephritis) usually is caused from bacteria that have spread from the bladder from a UTI (urinary tract infection), poor hygiene, sexual intercourse, pregnancy, catheter, cystoscope exam, surgery, kidney stones, or prostate enlargement. Symptoms of kidney infection include: back pain, frequent urination, pain during urination, fever, and or pus or blood in the urine. Kidney infection is usually treated with antibiotics.
Cysts are saclike structures that can occur throughout the body and usually contain a semisolid, liquid, or gaseous substance. Infections, tumors, genetic conditions, chronic inflammatory conditions, and wear and tear can cause cysts. Though some cysts may be palpable, others may not produce any symptoms. Treatment depends upon the location and cause of the cyst.
Brain aneurysm (cerebral aneurysm) is caused by microscopic damage to artery walls, infections of the artery walls, tumors, trauma, drug abuse. Symptoms include headache, numbness of the face, dilated pupils, changes in vision, the "worst headache of your life," or a painful stiff neck. Immediate treatment for a brain aneurysm is crucial for patient survival.
High blood pressure (hypertension) means high pressure (tension) in the arteries. Treatment for high blood pressure include lifestyle modifications (alcohol, smoking, coffee, salt, diet, exercise), drugs and medications such as ACE inhibitors, angiotensin receptor blockers, beta blockers, diuretics, calcium channel blockers (CCBs), alpha blockers, clonidine, minoxidil, and Exforge.
Pancreatic cysts are collections of fluid within the pancreas. Some are benign, malignant, or pseudocysts. There are two major types of pancreatic cysts, inflammatory cysts and non-inflammatory cysts. Non-inflammatory cysts include: serous cyst adenomas, mucinous cyst adenomas, intraductal papillary mucinous neoplasm (IPMN), and solid pseudopapillary tumor of the pancreas. Symptoms of pancreatic cysts include abdominal pain, jaundice, fever, chills, and sepsis. Treatment depends on the type of cyst, and patient health.
High blood pressure can damage the kidneys and is one of the leading causes of kidney failure (end-stage renal kidney disease). Kidney damage, like hypertension, can be unnoticeable and detected only through medical tests. If you have kidney disease, you should control your blood pressure. Other treatment options include prescription medications.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
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